Induced pluripotent stem cells derived from patients carrying mitochondrial mutations exhibit altered bioenergetics and aberrant differentiation potential

Table 2 Quantification of heteroplasmy by next-generation sequencing

Sample name	Mutation	Total number analyzed	Normal	Variant	Percentage of mutation (%)
SBG1-hiPSC	8993 T > G	213	38 (T)	175 (G)	82
SBG2-hiPSC	8993 T > G	1399	1058 (T)	341 (G)	24
SBG3-hiPSC	9185 T > C	548	23 (T)	525 (C)	96
SBG5-hiPSC	12706 T > C	493	489 (T)	4 (C)	1

The extracted mtDNA was next-generation-sequenced for whole exome. The sequencing results were compiled, and the results were analyzed as detailed in the methods section. This allows us to compute heteroplasmic variants based on the sequencing reads. Results demonstrate the presence of pathogenic mtDNA burden in SBG1-3 hiPSC, while very low in SBG5-hiPSC

ISSN: 1757-6512